Metagenomic Next-Generation Sequencing for Infectious Diseases
“One of the central archetypes of clinical practice is the mystery of a patient who is clearly sick yet lacks a definitive diagnosis. With infectious disease, the near-infinite diversity of pathogens makes this dilemma a unique challenge. The advent of tests that perform rapid genetic sequencing to identify nonhuman, microbial genomic information (also known as metagenomic next-generation sequencing, or mNGS) offers a singular appeal in this setting: The genetic identity of the pathogen could provide an immediate answer to the central mystery of the infected patient. Unfortunately, the cost of mNGS is typically 10–20 times that of most conventional laboratory tests for infectious disease. How can clinicians and labs deploy mNGS to maximize diagnostic yield while minimizing cost? We offer three perspectives from key stakeholders, as well as a theoretical framework for optimizing clinical benefit and laboratory stewardship.” MORE
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